Generation of a human induced pluripotent stem cell line (JSPHi002-A) from a patient with long-QT syndrome type 1 caused by KCNQ1 c.773A > T mutation


We generated an iPSCs line from the peripheral blood mononuclear cells (PBMCs) collected from a patient with long QT syndrome type 1 (LQT1) via a non-integrating system. We identified and verified a missense mutation in the KCNQ1 gene (c.773A > T) by whole-exome sequencing and Sanger sequencing. The established iPSC line was tested for pluripotency, differentiation potential, and karyotype. This cell-based model can help study the molecular mechanism and develop personalized drug therapies for LQT1. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Wang Q, Zhang Y, Zhang F, Li Z, Cheng H, Lin Y, Zhu Y, Chen H, Cui C, Chen M
Journal Stem cell research
Publication Date 2022 Jul;62:102810
PubMed 35580545
DOI 10.1016/j.scr.2022.102810

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